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Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

Pediatric research, 2018-05, Vol.83 (5), p.921-929

2018

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Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

World journal of gastroenterology : WJG, 2008-07, Vol.14 (28), p.4454-4461

2008

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Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

Pediatric research, 2018-11, Vol.84 (5), p.787-787

2018

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Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations

Pediatric research, 2020-02, Vol.87 (3), p.456-462

2020

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US Evaluation of Topical Hemostatic Agents in Post-Thyroidectomy

Cancers, 2023-05, Vol.15 (9), p.2644

2023

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Qualitative Assessment of Contrast-Enhanced Ultrasound in Differentiating Clear Cell Renal Cell Carcinoma and Oncocytoma

Journal of clinical medicine, 2023-04, Vol.12 (9), p.3070

2023

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Imaging of Carotid Stenosis: Where Are We Standing? Comparison of Multiparametric Ultrasound, CT Angiography, and MRI Angiography, with Recent Developments

Diagnostics (Basel), 2024-08, Vol.14 (16), p.1708

2024

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New Technologies in the Assessment of Carotid Stenosis: Beyond the Color-Doppler Ultrasound-High Frame Rate Vector-Flow and 3D Arterial Analysis Ultrasound

Diagnostics (Basel), 2023-04, Vol.13 (8), p.1478

2023

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Wolfram syndrome 1 and Wolfram syndrome 2

Current opinion in pediatrics, 2012-08, Vol.24 (4), p.512-517

2012

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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

Human mutation, 2003-06, Vol.21 (6), p.622-629

2003

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A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

European journal of pediatrics, 2003-10, Vol.162 (10), p.727-728

2003

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Iron overload and malignancies in patients with haemoglobinopathies: A single center experience

Transfusion and apheresis science, 2019-10, Vol.58 (5), p.647-651

2019

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Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children

Allergy and asthma proceedings, 2007-11, Vol.28 (6), p.667-670

2007

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Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Annals of human genetics, 2015-09, Vol.79 (5), p.341-349

2015

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A Novel Mutation of the δ-Globin Gene in an Asymptomatic 30-Year-Old Female

Acta haematologica, 2018-01, Vol.139 (1), p.33-34

2018

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Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype

Gene, 2013-09, Vol.526 (2), p.487-489

2013

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Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies

Pediatric research, 2004-12, Vol.56 (6), p.988-993

2004

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Histological heterogeneity and somatic mtDNA mutations in gastric intraepithelial neoplasia

Modern pathology, 2008-06, Vol.21 (6), p.733-741

2008

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Co‐inheritance of Hb Hershey [β70(E14) Ala→Gly] and Hb La Pommeraie [β133(H11)Val→Met] in a Sicilian subject

European journal of haematology, 2010-05, Vol.84 (5), p.453-457

2010

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Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2

Annals of hematology, 2006-12, Vol.85 (12), p.829-831

2006

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Identification of [alpha]-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2

Annals of hematology, 2006-12, Vol.85 (12), p.829

2006

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A Novel Mutation of the δ-Globin Gene in an Asymptomatic 30-Year-Old Female

Acta haematologica, 2018, Vol.139 (1), p.33-34

2018

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Co-inheritance of Hb Hershey [β70(E14) Ala→Gly] and Hb La Pommeraie [β133(H11)Val→Met] in a Sicilian subject

European Journal of Haematology, 2010, Vol.84 (5), p.453-457

2010

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Cardiac MR With Late Gadolinium Enhancement in Acute Myocarditis With Preserved Systolic Function: ITAMY Study

Journal of the American College of Cardiology, 2017-10, Vol.70 (16), p.1977-1987

2017

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Carbon Fiber 3D Printing: Technologies and Performance-A Brief Review

Materials, 2023-11, Vol.16 (23), p.7311

2023

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Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations

US Evaluation of Topical Hemostatic Agents in Post-Thyroidectomy

Qualitative Assessment of Contrast-Enhanced Ultrasound in Differentiating Clear Cell Renal Cell Carcinoma and Oncocytoma

Imaging of Carotid Stenosis: Where Are We Standing? Comparison of Multiparametric Ultrasound, CT Angiography, and MRI Angiography, with Recent Developments

New Technologies in the Assessment of Carotid Stenosis: Beyond the Color-Doppler Ultrasound-High Frame Rate Vector-Flow and 3D Arterial Analysis Ultrasound

Wolfram syndrome 1 and Wolfram syndrome 2

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

Iron overload and malignancies in patients with haemoglobinopathies: A single center experience

Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children

Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

A Novel Mutation of the δ-Globin Gene in an Asymptomatic 30-Year-Old Female

Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype

Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies

Histological heterogeneity and somatic mtDNA mutations in gastric intraepithelial neoplasia

Co‐inheritance of Hb Hershey [β70(E14) Ala→Gly] and Hb La Pommeraie [β133(H11)Val→Met] in a Sicilian subject

Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2

Identification of [alpha]-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2

A Novel Mutation of the δ-Globin Gene in an Asymptomatic 30-Year-Old Female

Co-inheritance of Hb Hershey [β70(E14) Ala→Gly] and Hb La Pommeraie [β133(H11)Val→Met] in a Sicilian subject

Cardiac MR With Late Gadolinium Enhancement in Acute Myocarditis With Preserved Systolic Function: ITAMY Study

Carbon Fiber 3D Printing: Technologies and Performance-A Brief Review

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